{"Name":"Hereditary geniospasm","DiseaseID__c":"GARD:0009501","id":9501,"encodedName":"hereditary-geniospasm","IsDeleted":false,"Disease_Name_Full__c":"Hereditary geniospasm","Xref_IDs__c":"718103001; C1860972; C537682; MEDGEN:348757; MONDO:0008588; OMIM:190100; ORPHA:53372","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008588","Disease_Description__c":"A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may represent more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported.","GARD_Name__c":"Hereditary geniospasm","GARD_Synonym__c":"chin myoclonus; chin spasms; familial trembling of the chin; geniospasm; geniospasm 1; hereditary chin myoclonus; hereditary chin-trembling; trembling chin","Curated_Disease_Description_Source__c":"GARD:0009501","Curated_Disease_Description__c":"Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with age. Hereditary geniospasm is believed to be inherited in an autosomal dominant pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:53372","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008588","ORPHANET_ID__c":"ORPHA:53372","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Geniospasmo o espasmo mandibular","Spanish_Description_Source__c":"ORPHA:53372","Spanish_Description__c":"El geniospasmo hereditario es un trastorno del movimiento caracterizado por episodios de temblor involuntario de la barbilla y del labio inferior.","Spanish_Disease_Name__c":"geniospasmo o espasmo mandibular","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with age. Hereditary geniospasm is believed to be inherited in an autosomal dominant pattern.","Curated_Disease_Description_Source__c":"GARD:0009501","GARD_Synonym__c":"chin myoclonus; chin spasms; familial trembling of the chin; geniospasm; geniospasm 1; hereditary chin myoclonus; hereditary chin-trembling; trembling chin","Name":"Hereditary geniospasm","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Tremor Foundation","Website__c":"https://tremor.org.uk/"},{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:53372"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348757","Source__c":"C1860972","Xref__c":"MEDGEN:348757"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860972","Source__c":"C1860972","Xref__c":"C1860972"},{"URL__c":"https://www.omim.org/entry/190100","Source__c":"C1860972; MONDO:0008588; ORPHA:53372","Xref__c":"OMIM:190100"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718103001","Source__c":"MONDO:0008588","Xref__c":"718103001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537682","Source__c":"MONDO:0008588","Xref__c":"C537682"},{"URL__c":"https://www.orpha.net/en/disease/detail/53372","Source__c":"C1860972; MONDO:0008588","Xref__c":"ORPHA:53372"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008588","Source__c":"GARD:0009501","Xref__c":"MONDO:0008588"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012462","Source__c":"C1860972","Xref__c":"HP:0012462"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:53372","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002353","HPO_Synonym__c":"Abnormal EEG; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities","HPO_Name__c":"EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:53372","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:53372","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the lower lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000178","HPO_Synonym__c":"Abnormality of lower lip","HPO_Name__c":"Abnormal lower lip morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53372","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of a mentalis muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000007","HPO_Name__c":"Abnormality of mentalis muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53372","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Involuntary and irregular twitches of the chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012462","HPO_Synonym__c":"Geniospasm","HPO_Name__c":"Chin myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53372","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002080","HPO_Name__c":"Intention tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:53372","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of actions or reactions of a person exhibited during social interactions with other individuals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012433","HPO_Synonym__c":"Abnormal social behavior; Abnormal social interactions","HPO_Name__c":"Abnormal social behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["chin myoclonus"," chin spasms"," familial trembling of the chin"," geniospasm"," geniospasm 1"," hereditary chin myoclonus"," hereditary chin-trembling"," trembling chin"]}